Linked Data
ClinVar Variation Id:
2044313
ClinVar RCV Id:
RCV002903595
dbSNP Id:
rs1057522488
gnomAD v2:
X-25031480-G-C
gnomAD v4:
X-25013363-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013363G>C , CM000685.2:g.25013363G>C | GRCh38 |
| NC_000023.10:g.25031480G>C , CM000685.1:g.25031480G>C | GRCh37 |
| NC_000023.9:g.24941401G>C | NCBI36 |
| NG_008281.1:g.7586C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.632C>G MANE Select | ENSP00000368332.4:p.Pro211Arg | |
| ENST00000379044.4:c.632C>G | ENSP00000368332.4:p.Pro211Arg | |
| NM_139058.2:c.632C>G | NP_620689.1:p.Pro211Arg | |
| NM_139058.3:c.632C>G MANE Select | NP_620689.1:p.Pro211Arg |